Characterization and Related Factors of Postural Control in Adults With Late-Onset Pompe Disease: Cross-Sectional and...

Adults with late-onset Pompe disease (LOPD) experience lower limb weakness, balance disorders, and recurrent falls. Mechanisms underlying postural control (stability, orientation) and falls in LOPD remain poorly understood. Investigating these aspects is critical to guide care and rehabilitation.

This study compared postural control in participants with LOPD to controls, examining postural and muscular factors linked to falls and muscular contributions to postural alterations.

This study was a cross-sectional, case-control study. Postural stability and orientation during stationary standing were evaluated using force platforms and 3D motion analysis under two visual conditions, while maximal muscle strength was measured with an isokinetic dynamometer.

This cross-sectional, case-control study was conducted at a teaching hospital, which was a reference center for neuromuscular disease.

This study involved two cohorts: participants with LOPD and control participants.

Postural stability (center of pressure [COP] displacements, lower limb joint range of motion) and orientation (COP mean position, weight distribution, joint positions) parameters were assessed, alongside falls reported over 3 months and maximal lower limb muscles strength.

Compared to 20 controls, 18 adults with LOPD showed impaired postural stability, especially medio-laterally with eyes closed (ES = 0.42-0.83), and an anterior shift of the COP without joint orientation changes. Falls were strongly associated with COP mean velocity (eyes open: ρ = 0.73; eyes closed: ρ = 0.74) and with hip abductor (ρ = - 0.77) and extensor strength (ρ = - 0.79). Hip extensor strength was most strongly associated with COP mean velocity (eyes closed: ρ = - 0.72; eyes open: ρ = - 0.69).

Adults with LOPD demonstrate impaired postural stability, especially in the medio-lateral plane with eyes closed, and an anteriorized upright orientation.

Hip extensor and abductor strength, strongly linked to falls and stability, should be important to target in evaluations and rehabilitation and in studies on new therapies on LOPD.